Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908653G>A | CA507947475 | APOE | c.357G>A (p.Gln119=) c.435G>A (p.Gln145=) | |
19 | g.44908653G>C | CA406303865 | APOE | c.357G>C (p.Gln119His) c.435G>C (p.Gln145His) | |
19 | g.44908653G>T | CA406303866 | APOE | c.357G>T (p.Gln119His) c.435G>T (p.Gln145His) | |
19 | g.44908654G>A | CA406303867 | APOE | c.358G>A (p.Ala120Thr) c.436G>A (p.Ala146Thr) | gnomAD v4 |
19 | g.44908654G>C | CA406303869 | APOE | c.358G>C (p.Ala120Pro) c.436G>C (p.Ala146Pro) | |
19 | g.44908654G= | CA2338167473 | APOE | c.358G= (p.Ala120=) c.436G= (p.Ala146=) | |
19 | g.44908654G>T | CA406303868 | APOE | c.358G>T (p.Ala120Ser) c.436G>T (p.Ala146Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908655C>A | CA406303870 | APOE | c.359C>A (p.Ala120Asp) c.437C>A (p.Ala146Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908655C= | CA2338167474 | APOE | c.359C= (p.Ala120=) c.437C= (p.Ala146=) | |
19 | g.44908655C>G | CA406303872 | APOE | c.359C>G (p.Ala120Gly) c.437C>G (p.Ala146Gly) | |
19 | g.44908655C>T | CA406303871 | APOE | c.359C>T (p.Ala120Val) c.437C>T (p.Ala146Val) | |
19 | g.44908656_44908671del | CA2585715437 | APOE | c.360_375del (p.Arg121TrpfsTer?) c.438_453del (p.Arg147TrpfsTer?) | gnomAD v4 |
19 | g.44908656C>A | CA507947478 | APOE | c.360C>A (p.Ala120=) c.438C>A (p.Ala146=) | dbSNP |
19 | g.44908656C= | CA2338167476 | APOE | c.360C= (p.Ala120=) c.438C= (p.Ala146=) | |
19 | g.44908656C>G | CA507947479 | APOE | c.360C>G (p.Ala120=) c.438C>G (p.Ala146=) | |
19 | g.44908656C>T | CA507947481 | APOE | c.360C>T (p.Ala120=) c.438C>T (p.Ala146=) | |
19 | g.44908657C>A | CA308885370 | APOE | c.361C>A (p.Arg121=) c.439C>A (p.Arg147=) | dbSNP gnomAD v4 |
19 | g.44908657C= | CA2338167478 | APOE | c.361C= (p.Arg121=) c.439C= (p.Arg147=) | |
19 | g.44908657C>G | CA406303873 | APOE | c.361C>G (p.Arg121Gly) c.439C>G (p.Arg147Gly) | dbSNP |
19 | g.44908657C>T | CA9506049 | APOE | c.361C>T (p.Arg121Trp) c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908658G>A | CA406303874 | APOE | c.362G>A (p.Arg121Gln) c.440G>A (p.Arg147Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.44908658G>C | CA406303875 | APOE | c.362G>C (p.Arg121Pro) c.440G>C (p.Arg147Pro) | |
19 | g.44908658G= | CA2338167480 | APOE | c.362G= (p.Arg121=) c.440G= (p.Arg147=) | |
19 | g.44908658G>T | CA406303876 | APOE | c.362G>T (p.Arg121Leu) c.440G>T (p.Arg147Leu) | gnomAD v4 |
19 | g.44908659G>A | CA507947482 | APOE | c.363G>A (p.Arg121=) c.441G>A (p.Arg147=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908659G>C | CA507947483 | APOE | c.363G>C (p.Arg121=) c.441G>C (p.Arg147=) | dbSNP |
19 | g.44908659G= | CA2338167482 | APOE | c.363G= (p.Arg121=) c.441G= (p.Arg147=) | |
19 | g.44908659G>T | CA507947484 | APOE | c.363G>T (p.Arg121=) c.441G>T (p.Arg147=) | |
19 | g.44908660C>A | CA345321 | APOE | c.364C>A (p.Leu122Met) c.442C>A (p.Leu148Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908660C= | CA2338167485 | APOE | c.364C= (p.Leu122=) c.442C= (p.Leu148=) | |
19 | g.44908660C>G | CA406303877 | APOE | c.364C>G (p.Leu122Val) c.442C>G (p.Leu148Val) | dbSNP |
19 | g.44908660C>T | CA507947487 | APOE | c.364C>T (p.Leu122=) c.442C>T (p.Leu148=) | gnomAD v4 |
19 | g.44908661T>A | CA406303878 | APOE | c.365T>A (p.Leu122Gln) c.443T>A (p.Leu148Gln) | |
19 | g.44908661T>C | CA406303879 | APOE | c.365T>C (p.Leu122Pro) c.443T>C (p.Leu148Pro) | |
19 | g.44908661T>G | CA406303880 | APOE | c.365T>G (p.Leu122Arg) c.443T>G (p.Leu148Arg) | |
19 | g.44908662G>A | CA507947490 | APOE | c.366G>A (p.Leu122=) c.444G>A (p.Leu148=) | dbSNP gnomAD v4 |
19 | g.44908662G>C | CA507947489 | APOE | c.366G>C (p.Leu122=) c.444G>C (p.Leu148=) | |
19 | g.44908662G= | CA2338167489 | APOE | c.366G= (p.Leu122=) c.444G= (p.Leu148=) | |
19 | g.44908662G>T | CA9506050 | APOE | c.366G>T (p.Leu122=) c.444G>T (p.Leu148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908663G>A | CA406303881 | APOE | c.367G>A (p.Gly123Ser) c.445G>A (p.Gly149Ser) | |
19 | g.44908663G>C | CA406303882 | APOE | c.367G>C (p.Gly123Arg) c.445G>C (p.Gly149Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908663G= | CA2338167493 | APOE | c.367G= (p.Gly123=) c.445G= (p.Gly149=) | |
19 | g.44908663G>T | CA406303883 | APOE | c.367G>T (p.Gly123Cys) c.445G>T (p.Gly149Cys) | |
19 | g.44908664G>A | CA406303884 | APOE | c.368G>A (p.Gly123Asp) c.446G>A (p.Gly149Asp) | dbSNP gnomAD v2 |
19 | g.44908664G>C | CA406303886 | APOE | c.368G>C (p.Gly123Ala) c.446G>C (p.Gly149Ala) | |
19 | g.44908664G= | CA2338167495 | APOE | c.368G= (p.Gly123=) c.446G= (p.Gly149=) | |
19 | g.44908664G>T | CA406303885 | APOE | c.368G>T (p.Gly123Val) c.446G>T (p.Gly149Val) | |
19 | g.44908665C>A | CA507947495 | APOE | c.369C>A (p.Gly123=) c.447C>A (p.Gly149=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908665C= | CA2338167498 | APOE | c.369C= (p.Gly123=) c.447C= (p.Gly149=) | |
19 | g.44908665C>G | CA507947494 | APOE | c.369C>G (p.Gly123=) c.447C>G (p.Gly149=) | dbSNP gnomAD v2 gnomAD v4 |